ABLIM2

Summary

ABLIM2 (actin binding LIM protein family member 2, HGNC:19195) is a protein-coding gene on chromosome 4p16.1, encoding Actin-binding LIM protein 2 (Q6H8Q1). May act as scaffold protein.

Predicted to enable actin filament binding activity. Predicted to be involved in lamellipodium assembly. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in actin cytoskeleton.

Source: NCBI Gene 84448 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 206 total — 36 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_001130083

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19195
Approved symbol	ABLIM2
Name	actin binding LIM protein family member 2
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1808
Ensembl gene	ENSG00000163995
Ensembl biotype	protein_coding
OMIM	612544
Entrez	84448

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 12 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000341937, ENST00000361581, ENST00000361737, ENST00000407564, ENST00000428004, ENST00000447017, ENST00000502800, ENST00000504172, ENST00000505872, ENST00000509819, ENST00000510277, ENST00000512594, ENST00000514025, ENST00000515079, ENST00000545242, ENST00000676532, ENST00000710854

RefSeq mRNA: 8 — MANE Select: NM_001130083 NM_001130083, NM_001130084, NM_001130085, NM_001130086, NM_001130087, NM_001130088, NM_001286688, NM_032432

CCDS: CCDS47011, CCDS47012, CCDS47013, CCDS47014, CCDS47015, CCDS47016, CCDS54719, CCDS68669

Canonical transcript exons

ENST00000447017 — 21 exons

Exon	Start	End
ENSE00001080335	8054188	8054246
ENSE00001080338	8045164	8045241
ENSE00001278537	7984839	7984893
ENSE00001278544	7992866	7992927
ENSE00001337667	8020202	8020303
ENSE00003467941	8060967	8061054
ENSE00003499210	7983264	7983344
ENSE00003520414	8027759	8027857
ENSE00003522994	7983547	7983554
ENSE00003528338	8008059	8008200
ENSE00003621053	8019618	8019671
ENSE00003623122	8029656	8029776
ENSE00003639334	8036149	8036295
ENSE00003643359	8009050	8009102
ENSE00003653223	8106494	8106637
ENSE00003712948	8080676	8080802
ENSE00003716563	8077628	8077721
ENSE00003739056	8097099	8097282
ENSE00003754455	8088169	8088284
ENSE00003847991	8158680	8158813
ENSE00004013859	7965327	7967103

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 99.08.

FANTOM5 (CAGE): breadth broad, TPM avg 3.2648 / max 305.9600, expressed in 622 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51323	1.9681	578
51320	0.4499	39
51317	0.4488	59
51310	0.1023	42
51319	0.0779	13
51316	0.0692	41
51309	0.0383	17
51324	0.0369	15
51315	0.0331	29
51322	0.0203	7

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	99.08	gold quality
gastrocnemius	UBERON:0001388	98.05	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.15	gold quality
muscle of leg	UBERON:0001383	96.52	gold quality
skeletal muscle tissue	UBERON:0001134	95.64	gold quality
body of tongue	UBERON:0011876	95.28	gold quality
nucleus accumbens	UBERON:0001882	95.25	gold quality
deltoid	UBERON:0001476	95.24	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.10	gold quality
quadriceps femoris	UBERON:0001377	94.47	gold quality
prefrontal cortex	UBERON:0000451	94.46	gold quality
right frontal lobe	UBERON:0002810	94.06	gold quality
putamen	UBERON:0001874	93.86	gold quality
vastus lateralis	UBERON:0001379	93.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.71	gold quality
caudate nucleus	UBERON:0001873	93.34	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.03	gold quality
frontal cortex	UBERON:0001870	92.71	gold quality
neocortex	UBERON:0001950	91.85	gold quality
muscle tissue	UBERON:0002385	91.82	gold quality
anterior cingulate cortex	UBERON:0009835	91.61	gold quality
biceps brachii	UBERON:0001507	91.41	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.31	gold quality
primary visual cortex	UBERON:0002436	91.26	gold quality
occipital lobe	UBERON:0002021	91.11	gold quality
tongue	UBERON:0001723	90.95	gold quality
decidua	UBERON:0002450	90.16	gold quality
hypothalamus	UBERON:0001898	90.04	gold quality
spleen	UBERON:0002106	90.01	gold quality
forebrain	UBERON:0001890	89.61	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	1240.97
E-ANND-3	yes	4.68
E-GEOD-131882	no	1158.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting ABLIM2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4441	99.49	66.56	3216

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ablim2	ENSDARG00000055223
mus_musculus	Ablim2	ENSMUSG00000029095
rattus_norvegicus	Ablim2	ENSRNOG00000007882
drosophila_melanogaster	Unc-115a	FBGN0051352
drosophila_melanogaster	Unc-115b	FBGN0260463

Paralogs (3): ABLIM1 (ENSG00000099204), DMTN (ENSG00000158856), ABLIM3 (ENSG00000173210)

Protein

Protein identifiers

Actin-binding LIM protein 2 — Q6H8Q1 (reviewed: Q6H8Q1)

Alternative names: Actin-binding LIM protein family member 2

All UniProt accessions (6): A0A140VK02, A0A7I2V5G9, A0AA34QVK8, D6RAL0, Q6H8Q1, F5GYR0

UniProt curated annotations — full annotation on UniProt →

Function. May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity.

Subunit / interactions. Interacts with F-actin and ABRA.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in skeletal muscle.

Isoforms (9)

UniProt ID	Names	Canonical?
Q6H8Q1-1	1	yes
Q6H8Q1-2	2
Q6H8Q1-3	3
Q6H8Q1-4	4
Q6H8Q1-5	5
Q6H8Q1-6	6
Q6H8Q1-7	7
Q6H8Q1-8	8
Q6H8Q1-9	9

RefSeq proteins (8): NP_001123555, NP_001123556, NP_001123557, NP_001123558, NP_001123559, NP_001123560, NP_001273617, NP_115808 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001781	Znf_LIM	Domain
IPR003128	Villin_headpiece	Domain
IPR032402	AbLIM_anchor	Domain
IPR036886	Villin_headpiece_dom_sf	Homologous_superfamily
IPR051618	Actin-binding_LIM	Family

Pfam: PF00412, PF02209, PF16182

UniProt features (75 total): binding site 16, strand 12, splice variant 9, helix 9, modified residue 8, domain 5, compositionally biased region 5, turn 4, sequence variant 2, sequence conflict 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1V6G	SOLUTION NMR
1WIG	SOLUTION NMR
2L3X	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6H8Q1-F1	66.21	0.31

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (16): 83; 86; 103; 106; 109; 112; 131; 134; 212; 215; 232; 235 …

Post-translational modifications (8): 282, 294, 364, 367, 452, 472, 476, 578

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-418885	DCC mediated attractive signaling
R-HSA-1266738	Developmental Biology
R-HSA-373752	Netrin-1 signaling
R-HSA-422475	Axon guidance
R-HSA-9675108	Nervous system development

MSigDB gene sets: 87 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, NKX25_02, GGAMTNNNNNTCCY_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, chr4p16, ATF3_Q6, GOBP_LAMELLIPODIUM_ORGANIZATION, GOMF_ACTIN_BINDING, GOBP_CELL_PROJECTION_ORGANIZATION, CERVERA_SDHB_TARGETS_1_UP, AACTGGA_MIR145, GOBP_LAMELLIPODIUM_ASSEMBLY, TGGAAA_NFAT_Q4_01, GOMF_CYTOSKELETAL_PROTEIN_BINDING

GO Biological Process (2): cytoskeleton organization (GO:0007010), lamellipodium assembly (GO:0030032)

GO Molecular Function (4): metal ion binding (GO:0046872), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Netrin-1 signaling	1
Axon guidance	1
Nervous system development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
organelle organization	1
lamellipodium organization	1
plasma membrane bounded cell projection assembly	1
cation binding	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoskeleton	1

Protein interactions and networks

STRING

750 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABLIM2	ABRA	Q8N0Z2	941
ABLIM2	SRF	P11831	695
ABLIM2	REST	Q13127	542
ABLIM2	AFAP1	Q8N556	533
ABLIM2	SH3TC1	Q8TE82	492
ABLIM2	SMTNL2	Q2TAL5	461
ABLIM2	WT1	P19544	426
ABLIM2	NEXN	Q0ZGT2	423
ABLIM2	MESD	Q14696	422
ABLIM2	SORCS2	Q96PQ0	421
ABLIM2	ZNF267	Q14586	408
ABLIM2	PDLIM3	Q53GG5	385
ABLIM2	CBFA2T3	O75081	383
ABLIM2	MEAF6	Q9HAF1	375
ABLIM2	ARHGEF39	Q8N4T4	375

IntAct

13 interactions, top by confidence:

A	B	Type	Score
LIN7C	ABLIM1	psi-mi:“MI:0914”(association)	0.530
ABLIM2	AFDN	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
LIN7C	STK25	psi-mi:“MI:0914”(association)	0.350
VSIG1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
yqjI	ABLIM2	psi-mi:“MI:0915”(physical association)	0.000
SREBF2	ABLIM2	psi-mi:“MI:0915”(physical association)	0.000
ABLIM2	TTN	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): ABLIM2 (Affinity Capture-MS), ABLIM2 (Affinity Capture-MS), ABLIM2 (Affinity Capture-RNA), ABLIM2 (Two-hybrid), ABLIM2 (Two-hybrid), AHNAK2 (Two-hybrid), ABLIM2 (Two-hybrid), ABLIM2 (Affinity Capture-MS), ASXL2 (Affinity Capture-MS), KDM1B (Affinity Capture-MS), MLLT4 (Affinity Capture-MS), ABLIM2 (Affinity Capture-MS), CSF1R (Co-fractionation), NCKAP5L (Co-fractionation), SMC1A (Co-fractionation)

ESM2 similar proteins: A0JNJ1, A5PMU4, A6QQV9, A7E3S4, D4AB98, F7EL49, P15056, P34908, P59672, P97306, Q04982, Q13905, Q15678, Q16825, Q5F488, Q5TCQ9, Q5TCZ1, Q62130, Q62136, Q62728, Q6DD51, Q6H8Q1, Q6KC51, Q6P9K8, Q6ZMT1, Q80T23, Q80YS6, Q812E4, Q8BL65, Q8BN59, Q8BZ71, Q8BZI0, Q8N556, Q8R1B0, Q8TDW5, Q8TED9, Q8TEW8, Q8VH46, Q8VHK2, Q8WXD9

Diamond homologs: A1ZA47, A2ALU4, A5H447, D4A702, E1BKA3, O00151, O14639, O43294, O60711, O70209, O70400, O75112, O94929, P20271, P48059, P49023, P49024, P50464, P52944, Q09476, Q0WSN2, Q13796, Q15942, Q1JQB5, Q2KJ33, Q2TCH4, Q2YDK0, Q3MHZ4, Q3SX26, Q3SX40, Q3SYZ8, Q3T0X8, Q3TJD7, Q55BI0, Q5F464, Q5R7I1, Q5RCF7, Q5TD97, Q5U2Z2, Q5XI07

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

206 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	36
Likely pathogenic	2
Uncertain significance	127
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	Pathogenic
1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	Pathogenic
146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	Pathogenic
146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	Pathogenic
147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	Pathogenic
149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	Pathogenic
153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	Pathogenic
155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	Pathogenic
155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	Pathogenic
1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	Pathogenic
253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	Pathogenic
253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	Pathogenic
253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	Pathogenic
253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	Pathogenic
2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	Pathogenic
2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	Pathogenic
3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	Pathogenic
3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	Pathogenic
3391844	GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3	Pathogenic
394281	GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	Pathogenic
4075992	GRCh37/hg19 4p16.3-15.33(chr4:68346-11943374)x1	Pathogenic
441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	Pathogenic
442268	GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	Pathogenic
442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	Pathogenic
443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	Pathogenic
4682605	GRCh37/hg19 4p16.3-15.2(chr4:68346-23792768)x1	Pathogenic
4796162	GRCh38/hg38 4p16.3-15.33(chr4:68454-12774004)x1	Pathogenic
562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	Pathogenic
57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	Pathogenic
58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	Pathogenic

SpliceAI

5574 predictions. Top by Δscore:

Variant	Effect	Δscore
4:7967107:C:CT	acceptor_gain	1.0000
4:7967111:C:CT	acceptor_gain	1.0000
4:7967112:A:T	acceptor_gain	1.0000
4:7983259:CTTA:C	donor_loss	1.0000
4:7983260:TTAC:T	donor_loss	1.0000
4:7983261:TACC:T	donor_loss	1.0000
4:7983262:A:AC	donor_gain	1.0000
4:7983262:ACCT:A	donor_gain	1.0000
4:7983263:C:CA	donor_gain	1.0000
4:7983263:CCT:C	donor_gain	1.0000
4:7983263:CCTC:C	donor_gain	1.0000
4:7983340:TAGAT:T	acceptor_gain	1.0000
4:7983341:AGAT:A	acceptor_gain	1.0000
4:7983342:GAT:G	acceptor_gain	1.0000
4:7983342:GATCT:G	acceptor_loss	1.0000
4:7983343:AT:A	acceptor_gain	1.0000
4:7983344:TCTGT:T	acceptor_loss	1.0000
4:7983345:C:A	acceptor_loss	1.0000
4:7983345:C:CC	acceptor_gain	1.0000
4:7983346:T:G	acceptor_loss	1.0000
4:7983348:T:TC	acceptor_gain	1.0000
4:8005713:C:CT	acceptor_gain	1.0000
4:8008207:G:GC	acceptor_gain	1.0000
4:8029775:CCCTG:C	acceptor_loss	1.0000
4:8029776:CCTGG:C	acceptor_loss	1.0000
4:8029777:CT:C	acceptor_loss	1.0000
4:8029778:T:A	acceptor_loss	1.0000
4:8036143:CCATA:C	donor_loss	1.0000
4:8036144:CATA:C	donor_loss	1.0000
4:8036145:ATAC:A	donor_loss	1.0000

AlphaMissense

4252 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:7967031:A:G	W599R	1.000
4:7967031:A:T	W599R	1.000
4:8088251:G:C	F124L	1.000
4:8088251:G:T	F124L	1.000
4:8088253:A:G	F124L	1.000
4:8097110:A:C	C109W	1.000
4:8097112:A:G	C109R	1.000
4:8097188:G:C	C83W	1.000
4:8097190:A:G	C83R	1.000
4:8106577:C:G	C24S	1.000
4:8106578:A:G	C24R	1.000
4:8106578:A:T	C24S	1.000
4:7967011:C:A	K605N	0.999
4:7967011:C:G	K605N	0.999
4:7967029:C:A	W599C	0.999
4:7967029:C:G	W599C	0.999
4:7983319:A:T	V556D	0.999
4:8061016:A:C	C238W	0.999
4:8061018:A:G	C238R	0.999
4:8077667:A:C	C212W	0.999
4:8077668:C:G	C212S	0.999
4:8077668:C:T	C212Y	0.999
4:8077669:A:G	C212R	0.999
4:8077669:A:T	C212S	0.999
4:8080717:G:C	C180W	0.999
4:8080718:C:G	C180S	0.999
4:8080719:A:G	C180R	0.999
4:8080719:A:T	C180S	0.999
4:8080723:A:C	F178L	0.999
4:8080723:A:T	F178L	0.999

dbSNP variants (sampled 300 via entrez): RS1000001034 (4:8015932 C>A,T), RS1000031169 (4:8109652 C>T), RS1000041504 (4:8074833 T>C,G), RS1000045997 (4:8105648 G>T), RS1000049447 (4:8152960 C>T), RS1000081288 (4:8045916 C>A,G,T), RS1000091780 (4:8105790 C>G,T), RS1000100205 (4:7979174 G>A), RS1000102598 (4:8108802 T>C), RS1000114293 (4:8070377 G>T), RS10001300 (4:8120901 C>T), RS1000143776 (4:8043126 T>C), RS1000146749 (4:7999989 C>T), RS1000165474 (4:8121565 C>G,T), RS1000176057 (4:8107440 C>T)

Disease associations

OMIM: gene MIM:612544 | disease phenotypes: MIM:194190

GenCC curated gene-disease

Mondo (3): 4p16.3 microduplication syndrome (MONDO:0019873), neurodevelopmental disorder (MONDO:0700092), Wolf-Hirschhorn syndrome (MONDO:0008684)

Orphanet (2): 4p16.3 microduplication syndrome (Orphanet:96072), Wolf-Hirschhorn syndrome (Orphanet:280)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003263_95	Post bronchodilator FEV1 in COPD	1.000000e-06
GCST004823_7	Cognitive function	6.000000e-06
GCST004823_9	Cognitive function	7.000000e-06
GCST006304_5	Irritable bowel syndrome	3.000000e-06
GCST007637_38	Diffusing capacity of carbon monoxide	5.000000e-06
GCST008361_3	Response to cognitive-behavioural therapy in major depressive disorder	2.000000e-06
GCST008922_11	Triacylglyceride levels	4.000000e-08
GCST008922_2	Triacylglyceride levels	4.000000e-08
GCST009253_2	Early onset periodontitis x smoking status interaction	4.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0008354	cognitive function measurement
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0007820	cognitive behavioural therapy
EFO:0004530	triglyceride measurement
EFO:0006527	smoking status measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
D054877	Wolf-Hirschhorn Syndrome	C16.131.077.944; C16.131.260.985; C16.320.180.985

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects methylation	3
bisphenol A	decreases methylation, affects cotreatment, decreases expression	2
Arsenic	affects methylation, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
Cadmium Chloride	increases expression	2
OTX015	increases expression	1
mivebresib	increases expression	1
sodium arsenate	increases abundance, increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sulforaphane	decreases expression	1
benzo(e)pyrene	affects methylation, increases methylation	1
ferrous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Cadmium	decreases expression, decreases reaction	1
Clozapine	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression, increases expression	1
Indomethacin	affects cotreatment, decreases expression, increases expression	1
Lead	affects expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Methapyrilene	affects methylation, increases methylation	1

Clinical trials (associated diseases)

203 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge